Lipoma of the corpus callosum is a rare congenital condition, often asymptomatic, but which may present as epilepsy, hemiplegia, dementia, or headaches. This paper reviews the condition and reports the only two cases which are known to the Hospital for Sick Children, Great Ormond Street, London. The second case demonstrated the value of computerised axial tomography (EMI scan) in making the diagnosis and showing associated anomalies. (+info)
Cervical epidural lipoblastomatosis: changing MR appearance after chemotherapy.
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Lipoblastomatosis is a locally infiltrative tumor of embryonic fat. We describe the MR appearance of cervical lipoblastomatosis with epidural extension. The initial MR study showed features of a soft-tissue mass; a subsequent MR examination, performed after chemotherapy, depicted the lesion as a typical lipoma of high signal intensity on T1-weighted images and of intermediate signal on T2-weighted sequences. (+info)
Tuberous sclerosis associated with multiple hepatic lipomatous tumors and hemorrhagic renal angiomyolipoma.
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We report a case of tuberous sclerosis associated with hepatic lipomatous tumors and renal angiomyolipomas. Abdominal ultrasonography revealed a high echoic large tumor in the left kidney. A provisional diagnosis of angiomyolipomas of the kidney was made based on computed tomography. Subsequent laparotomy revealed that the extracted tumor was renal angiomyolipoma. It was also revealed that there was an association with hepatic lipomatous tumors thought to be lipomas or angiomyolipomas by liver biopsy. Nearly half of all cases of angiomyolipoma in the kidney are reported as occasional association with tuberous sclerosis complex, but lipomatous tumors in the liver are rare. (+info)
Hibernomas are characterized by homozygous deletions in the multiple endocrine neoplasia type I region. Metaphase fluorescence in situ hybridization reveals complex rearrangements not detected by conventional cytogenetics.
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Hibernomas are benign tumors of brown fat, frequently characterized by aberrations of chromosome band 11q13. In this study, the chromosome 11 changes in five hibernomas were analyzed in detail by metaphase fluorescence in situ hybridization. In all cases, complex rearrangements leading to loss of chromosome 11 material were found. Deletions were present not only in those chromosomes that were shown to be rearranged by G-banding, but in four cases also in the ostensibly normal homologues, resulting in homozygous loss of several loci. Among these, the gene for multiple endocrine neoplasia type I (MEN1) was most frequently deleted. In addition to the MEN1 deletions, heterozygous loss of a second region, approximately 3 Mb distal to MEN1, was found in all five cases, adding to previous evidence for a second tumor suppressor locus in 11q13. (+info)
Dandy-Walker syndrome associated with occipital meningocele and spinal lipoma--case report.
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A neonate presented with Dandy-Walker syndrome associated with occipital meningocele and spinal lipoma, manifesting as soft masses on the skull and lumbosacral regions. Magnetic resonance imaging demonstrated a large posterior fossa cyst between the fourth ventricle and occipital meningocele, but the aqueduct was patent and there was no sign of hydrocephalus. A cyst-peritoneal shunt was emplaced at the age of 8 days followed by partial removal of the spinal lipoma and untethering of the cord at the 3 months. Follow-up examination of age 3 years found almost normal development, although the cyst still persisted. (+info)
Targeted oncogenesis reveals a distinct tissue-specific utilization of alternative promoters of the human mineralocorticoid receptor gene in transgenic mice.
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The human mineralocorticoid receptor (hMR) is a nuclear receptor mediating aldosterone action, whose expression is driven by two alternative promoters, P1 and P2, flanking the two first 5'-untranslated exons. In vivo characterization of hMR regulatory regions was performed by targeted oncogenesis in mice using P1 or P2 directing expression of the large T antigen of SV40 (TAg). While transgenic P1.TAg founders rapidly developed lethal hibernomas from brown fat, cerebral primitive neuroectodermal tumors and facial leiomyosarcomas occurred in P2.TAg mice. Quantitative analyses of mouse MR (mMR) and transgene expression indicate that P1 promoter was transcriptionally active in all MR-expressing tissues, directing strong TAg expression in testis and salivary glands, moderate in lung, brain, uterus, liver, and heart but, unlike mMR, rather low in colon and kidney. Importantly, the renal transgene expression colocalized with mMR in the distal nephron. In contrast, P2 promoter was approximately 10 times less potent than P1, with no activity in the brain and colon. Several immortalized cell lines were established from both neoplastic and normal tissues of transgenic mice. These cells exhibited differentiated characteristics and maintained MR expression, thus providing useful models for further studies exploring the widespread expression and functions of MR. Our results demonstrate that hMR gene expression in vivo is controlled by complex regulatory mechanisms involving distinct tissue-specific utilization of alternative promoters. (+info)
Combined anomaly of intramedullary arteriovenous malformation and lipomyelomeningocele.
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We report a rare situation in which a lipomyelomeningocele and an intramedullary arteriovenous malformation (AVM) occurred together at the T11-L1 level in a 44-year-old man. MR images showed a hypervascular lesion intradurally and a fatty component extradurally. Spinal angiography revealed this lesion to be an intramedullary AVM with multiple feeding arteries from the right T12 and left T10 intercostal artery and the left L1 lumbar artery, drained by tortuous, dilated, perimedullary veins. (+info)
Multiple intracranial lipomas, hypogenetic corpus callosum and vestibular schwannoma: an unusual spectrum of MR findings in a patient.
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We describe imaging findings of a patient with multiple intracranial lipomas, hypogenetic corpus callosum and a vestibular schwannoma. We did not find association of intracranial lipomas and vestibular schwannoma in English literature. (+info)